V145A (p.Val145Ala) variant of ABCC6 (O95255)
V145A (p.Val145Ala) in ABCC6 (O95255) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
V145A (p.Val145Ala) variant details
- p.Val145Ala
- TOPMed rs926414743
- gnomAD rs926414743
- Missense
- Variant Prioritization Score for Impact Estimate 0.176
- REVEL 0.10
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the REMAINING population (allele frequency 3.4e-05)
- Structural context available